G195R (p.Gly195Arg) variant of COL3A1 (Collagen alpha-1(III) chain)
G195R (p.Gly195Arg) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome; Ehlers-Danl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
G195R (p.Gly195Arg) variant details
- p.Gly195Arg
- rs267599120
- ClinGen CA007089
- ClinVar RCV000087630
- Ensembl rs267599120
- Pathogenic
- Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome; Ehlers-Danl
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (Polymicrogyria with or without vascular-type Ehlers-Danlos syndr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)